No abstract

Diffuse gliomas are tumors that arise from glial or glial progenitor cells that have historically been classified as low-grade glioma (LGG), a slower-growing tumor, and glioblastoma (GBM), a more aggressive tumor. Despite advances in the diagnosis and treatment of glioma, the median survival time after diagnosis of GBM remains low, approximately 15 months, and with a 5-year overall survival rate of only 6.8%. Therefore, new biomarkers that could support earlier diagnosis and prognosis of these tumors would be of great value. MUC17, a member of the membrane-bound mucins, has been identified as a potential biomarker in several tumors. However, this mucin is unexplored in adult gliomas. Here we have shown for the first time in a retrospective study and by in silico analysis that MUC17 is one of the relevant mutant genes in adult gliomas and that the increase in MUC17 methylation correlates with the increase in glioma grade malignancy. Patients with MUC17 mutation had a poorer prognosis compared to their wild-type counterparts in both the LGG and GBM cohorts. We also analyzed which mutational profile correlates more strongly with poor survival. Therefore, in the present work, we present a new potential biomarker to be investigated for the diagnosis and prognosis in adult diffuse glioma.